Table 1 Results ofkaryotype analyses of fetuses with PS

1

47,XN,+21

arr[hg19] (21)x3

PS, FGR, Endocardial pad defect, Right aortic arch, Persistent left superior vena cava, Nasal bone dysplasia

TP

2

47,XN,+21

arr[hg19] (21)x3

PS, VSD, Aortic straddle

TP

3

47,XN,+21

arr[hg19] (21)x3

PS, VSD, Aortic straddle, Nasal bone dysplasia

TP

4

47,XXY

arr[hg19] (X)x2,(Y)x1

PS, VSD,Polycystic renal dysplasia, Nasal bone dysplasia

TP

5

45,XN,-18,+mar

arr[hg19]18p11.32p11.31(136,227-3,348,254)x1,18p11.31p11.21(3,350,736 − 13,083,388)x3,18p11.21(13,090,666 − 15,170,636)x1,18p11.21q21.31(15,181,20754,008,143)x3,18q21.31q23(54,020,488 − 78,013,728)x1

PS, VSD,Aortic coarctation

TP